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Biallelic mutations in CFAP65lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations

التفاصيل البيبلوغرافية
العنوان: Biallelic mutations in CFAP65lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations
المؤلفون: Wang, Weili, Tu, Chaofeng, Nie, Hongchuan, Meng, Lanlan, Li, Yong, Yuan, Shimin, Zhang, Qianjun, Du, Juan, Wang, Junpu, Gong, Fei, Fan, Liqing, Lu, Guang-Xiu, Lin, Ge, Tan, Yue-Qiu
المصدر: Journal of Medical Genetics (JMG); 2019, Vol. 56 Issue: 11 p750-757, 8p
مستخلص: BackgroundThe genetic causes for most male infertility due to severe asthenozoospermia remain unclear.ObjectiveOur objective was to identify unknown genetic factors in 47 patients with severe asthenozoospermia from 45 unrelated Chinese families.MethodsWe performed whole exome sequencing of 47 individuals with severe asthenozoospermia from 45 unrelated families. Mutation screening was performed in a control cohort of 637 individuals, including 219 with oligoasthenospermia, 195 with non-obstructive azoospermia and 223 fertile controls. Ultrastructural and immunostaining analyses of patients’ spermatozoa were performed to characterise the effect of variants.ResultsOne homozygous non-sense mutation (NM_194302, c.G5341T:p.E1781X), two compound heterozygous mutations (c.C2284T:p.R762X and c.1751delC:p.P584fs) and two compound heterozygous mutations (c.5714_5721del:p.L1905fs and c.C3021A:p.N1007K) were identified in CFAP65of three individuals with completely immotile spermatozoa, respectively. No biallelic deleterious variants of CFAP65were detected in the control cohort of 637 individuals. Ultrastructural and immunostaining analyses of spermatozoa from two patients showed highly aberrant sperm morphology with severe defects such as acrosome hypoplasia, disruption of the mitochondrial sheath and absence of the central pair complex.ConclusionTo the best of our knowledge, we are the first to report that CFAP65mutations may cause spermatozoa to be completely immotile.
قاعدة البيانات: Supplemental Index
الوصف
تدمد:00222593
14686244
DOI:10.1136/jmedgenet-2019-106031